Liquid Biopsies for Monitoring Temporal Genomic Heterogeneity in Breast and Colon Cancers

Research output: Contribution to journalReview articlepeer-review


Cancer is a spatial and temporal dynamic disease where differently evolving genetic clones are responsible for progression. In this landscape, the genomic heterogeneity of the primary tumours can be captured by deep-sequencing representative spatial samples. However, the recognition of genetic alterations responsible for tumour evolution remains a challenging task. Recently, the "liquid biopsy" was recognized as a powerful real-time approach for the molecular monitoring of this dynamic disease. The term "liquid biopsy" generally refers to the use of circulating (cell-free) tumour DNA (ctDNA) and circulating tumour cells (CTCs) as non-invasive biomarkers for the early diagnosis, prognosis, monitoring of clinical progression, and response to treatment in different types of tumours, including the highly genomic heterogeneous breast cancer. The implementation and standardization of both approaches are still needed to achieve the required sensitivity and specificity to successfully analyze heterogenous tumours, but pivotal studies, in particular those concerning colorectal cancer, have shown the feasibility and usefulness of liquid biopsy for monitoring the Darwinian clonal evolution from an early to a metastatic stage.

Original languageEnglish
Pages (from-to)146-154
Number of pages9
Issue number1-2
Publication statusPublished - May 1 2018


  • Breast cancer
  • Cell-free DNA
  • Circulating tumour cells
  • Circulating tumour DNA
  • Colorectal cancer
  • Genomic heterogeneity
  • Liquid biopsy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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